✦ LIBER ✦

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis

✍ Scribed by Anna-Maja Nyström; Sara Ekvall; Ann-Charlotte Thuresson; Ellen Denayer; Eric Legius; Masood Kamali-Moghaddam; Bengt Westermark; Göran Annerén; Marie-Louise Bondeson

Book ID: 116433255
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 271 KB
Volume: 53
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2010.03.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Gene dosage imbalances in patients with

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

✍ M Barbaro; A Cicognani; A Balsamo; Å Löfgren; L Baldazzi; A Wedell; M Oscarson 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 962 KB

P227 - Inflammatory genes expression pro

P227 - Inflammatory genes expression profiles in patients with IBD investigated using multiplex ligation-dependent probe amplification (MLPA)

✍ M.M. Diculescu; R. Iacob; D. Iancu; L. Barbarii; S. Iacob; B. Cotruta; S. Gologa 📂 Article 📅 2009 🏛 Oxford University Press 🌐 English ⚖ 97 KB

Multiplex Ligation-Dependent Probe Ampli

Multiplex Ligation-Dependent Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients

✍ Erlandson, Anna; Samuelsson, Lena; Hagberg, Bengt; Kyllerman, Mårten; Vujic, Mih 📂 Article 📅 2003 🏛 Mary Ann Liebert 🌐 English ⚖ 175 KB

Multiplex ligation-dependent probe ampli

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

✍ A Taylor; B Martin; D Wang; K Patel; SE Humphries; G Norbury 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB

572: The use of multiplex ligation-depen

572: The use of multiplex ligation-dependent probe amplification (MLPA) versus karyotype analysis in the investigation of pregnancy loss

✍ O'Leary, Danielle; O'Donoghue, Keelin 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 263 KB

Detection by multiplex ligation-dependen

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in theCOL4A5gene in female patients with Alport syndrome

✍ Kandai Nozu; Rafal Przybyslaw Krol; Koichi Nakanishi; Norishige Yoshikawa; Yoshi 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 73 KB